A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics

已完结 10 由 DCW 发布于 2025/6/14 14:28:14

DOI:10.1016/j.jaci.2024.11.041
作者：Hyoungjun Ham PhD , Crescent R. Isham BS, MA , Elizabeth H. Ristagno MD, MSc , Cristina Correia PhD , Scott M. Ennis BS , Richard K. Kandasamy PhD , Kishore Garapati MBBS
文献类型：期刊论文
补充材料：只需要正文

Elsevier

Abstract：BackgroundThe few reported patients with pathogenic IRF8 variants have manifested 2 distinct phenotypes: (1) an autosomal recessive severe immunodeficiency with significant neutrophilia and

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